AlphaFold predicted structure
SCN5A · Q14524
Mean pLDDT
67.3/ 100
Low
2,016 residues
Confidence breakdown
- Very high(≥ 90)11%
- Confident(70–90)47%
- Low(50–70)15%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SCN5A
Chr 3p22.2sodium voltage-gated channel alpha subunit 5
- Aliases:
- Nav1.5, LQT3, HB1, HBBD, PFHB1
- MANE:
- ENST00000423572.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Brugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLong QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownProgressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIdiopathic ventricular fibrillation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Brugada syndrome 1
0.84long QT syndrome 3
0.84progressive familial heart block, type 1A
0.80atrial fibrillation, familial, 10
0.80Brugada syndrome
0.79dilated cardiomyopathy 1E
0.79Familial progressive cardiac conduction defect
0.79cardiac arrhythmia
0.79sick sinus syndrome 1
0.78sudden infant death syndrome
0.77
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium channel protein type 5 subunit alpha
Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes (PubMed:33712541, PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:33712541, PubMed:40768348). The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:1309946, PubMed:21447824, PubMed:23085483, PubMed:23420830, PubMed:25370050, PubMed:26279430, PubMed:26392562, PubMed:26776555). Nav1.5 is the predominant sodium channel expressed in myocardial cells and it is responsible for the initial upstroke of the action potential in cardiac myocytes, thereby initiating the heartbeat (PubMed:11234013, PubMed:11804990, PubMed:12569159, PubMed:1309946). Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2 (By similarity)
Diseases associated with SCN5A
Curated MONDO disease pages that list SCN5A among their top associated genes.